Mutation

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Related to Gain-of-function: conditional mutant

MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

References in periodicals archive ?
They are also gain-of-function mutations, which activate the same transduction pathways as the c-kit.
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.
In this study, we applied both loss-of-function and gain-of-function assays to prove the effects of NEAT1 on cellular processed in cervical cancer.
In addition, all major policy issues in the field over the past 3 decades, including bioterrorism, gain-of-function influenza research, the antivaccine movement, and antimicrobial resistance, are covered in detail.
"Seipinopathies," a term created to refer to specific motor neuropathies, are dominant diseases caused by gain-of-function mutations, mostly related to nervous tissue disorders: Silver syndrome (SS) and distal hereditary motor neuropathy (dHMN) [6].
Mutation in the signal transduction and activation of transcription 3 gene (STAT3) with gain-of-function is the most prevalent mutation described and accounts for majority of its autosomal dominant and sporadic forms [1, 5, 7].
Eculizumab therapy in aHUS caused by a gain-of-function pathogenic variant of complement factor B (CFB) is described [7].
A single abnormality within amplification of KMT2A is reported to have a gain-of-function effect for leukemogenesis [3]; however, the exact role of this "partial" duplication of KMT2A in acute leukemia is still unclear.
Kwan et al., "York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1," Molecular Genetics and Metabolism, vol.
"Results from (gain-of-function) studies would almost certainly help in understanding the pandemic potential of influenza viruses and produce public health benefits, such as the prioritization and development of pre-pandemic vaccines and antiviral drugs," the authors write.
In contrast, gain-of-function mutations cause neonatal diabetes by reducing the ability of AT P to inhibit channel activity (at Kir6.2) or enhancing the ability of Mg-nucleotides to stimulate channel activity (at SUR1) (4).
on the value of below reference serum IgE concentration in the diagnosis of hypermorphic or gain-of-function (GoF) [1] signal transducer and activator of transcription 3 (STAT3) mutations (MIM: 615952) (1).